-
1
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (2015) A global reference for human genetic variation. Nature 526:68–74
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
Korbel, J.O.6
Marchini, J.L.7
McCarthy, S.8
McVean, G.A.9
Abecasis, G.R.10
-
2
-
-
84997386084
-
Revisiting the morbid genome of Mendelian disorders
-
PID: 27884173
-
Abouelhoda M, Faquih T, El-Kalioby Alkuraya FS (2016) Revisiting the morbid genome of Mendelian disorders. Genome Biol 17:235
-
(2016)
Genome Biol
, vol.17
, pp. 235
-
-
Abouelhoda, M.1
Faquih, T.2
El-Kalioby, A.F.S.3
-
4
-
-
84979851795
-
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response
-
Azevedo L, Serrano C, Amorim A, Cooper DN (2015) Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response. Hum Genom 9:21
-
(2015)
Hum Genom
, vol.9
, pp. 21
-
-
Azevedo, L.1
Serrano, C.2
Amorim, A.3
Cooper, D.N.4
-
5
-
-
84990206821
-
Improving the in silico assessment of pathogenicity for compensated variants
-
PID: 27703146
-
Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN (2016) Improving the in silico assessment of pathogenicity for compensated variants. Eur J Hum Genet 25:2–7
-
(2016)
Eur J Hum Genet
, vol.25
, pp. 2-7
-
-
Azevedo, L.1
Mort, M.2
Costa, A.C.3
Silva, R.M.4
Quelhas, D.5
Amorim, A.6
Cooper, D.N.7
-
6
-
-
84884688770
-
Guanine holes are prominent targets for mutation in cancer and inherited disease
-
COI: 1:CAS:528:DC%2BC3sXhsFKitb3F, PID: 24086153
-
Bacolla A, Temiz NA, Yi M, Ivanic J, Cer RZ, Donohue DE, Ball EV, Mudunuri US, Wang G, Jain A, Volfovsky N, Luke BT, Stephens RM, Cooper DN, Collins JR, Vasquez KM (2013) Guanine holes are prominent targets for mutation in cancer and inherited disease. PLoS Genet 9:e1003816
-
(2013)
PLoS Genet
, vol.9
-
-
Bacolla, A.1
Temiz, N.A.2
Yi, M.3
Ivanic, J.4
Cer, R.Z.5
Donohue, D.E.6
Ball, E.V.7
Mudunuri, U.S.8
Wang, G.9
Jain, A.10
Volfovsky, N.11
Luke, B.T.12
Stephens, R.M.13
Cooper, D.N.14
Collins, J.R.15
Vasquez, K.M.16
-
7
-
-
84931274833
-
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes
-
COI: 1:CAS:528:DC%2BC2MXhsFaitLvK, PID: 25897114
-
Bacolla A, Zhu X, Chen H, Howells K, Cooper DN, Vasquez KM (2015) Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes. Nucl Acids Res 43:5065–5080
-
(2015)
Nucl Acids Res
, vol.43
, pp. 5065-5080
-
-
Bacolla, A.1
Zhu, X.2
Chen, H.3
Howells, K.4
Cooper, D.N.5
Vasquez, K.M.6
-
8
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
COI: 1:CAS:528:DC%2BC3MXhsFWisbk%3D, PID: 21228398
-
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:65ra4
-
(2011)
Sci Transl Med
, vol.3
, pp. 65ra4
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
Hateley, S.L.4
Ganusova, E.E.5
Mudge, J.6
Langley, R.J.7
Zhang, L.8
Lee, C.C.9
Schilkey, F.D.10
Sheth, V.11
Woodward, J.E.12
Peckham, H.E.13
Schroth, G.P.14
Kim, R.W.15
Kingsmore, S.F.16
-
9
-
-
84863012272
-
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
-
PID: 22277967
-
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4:118ra10
-
(2012)
Sci Transl Med
, vol.4
, pp. 118ra10
-
-
Calvo, S.E.1
Compton, A.G.2
Hershman, S.G.3
Lim, S.C.4
Lieber, D.S.5
Tucker, E.J.6
Laskowski, A.7
Garone, C.8
Liu, S.9
Jaffe, D.B.10
Christodoulou, J.11
Fletcher, J.M.12
Bruno, D.L.13
Goldblatt, J.14
Dimauro, S.15
Thorburn, D.R.16
Mootha, V.K.17
-
10
-
-
84874741731
-
Identifying Mendelian disease genes with the variant effect scoring tool
-
Carter H, Douville C, Stenson PD, Cooper DN, Karchin R (2013) Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genom 14(Suppl 3):S3
-
(2013)
BMC Genom
, vol.14
, pp. S3
-
-
Carter, H.1
Douville, C.2
Stenson, P.D.3
Cooper, D.N.4
Karchin, R.5
-
11
-
-
84867301515
-
Predicting the functional effect of amino acid substitutions and indels
-
COI: 1:CAS:528:DC%2BC38XhsFCitr%2FO, PID: 23056405
-
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 7:e46688
-
(2012)
PLoS ONE
, vol.7
-
-
Choi, Y.1
Sims, G.E.2
Murphy, S.3
Miller, J.R.4
Chan, A.P.5
-
12
-
-
34548390940
-
In vitro assays fail to predict in vivo effects of regulatory polymorphisms
-
COI: 1:CAS:528:DC%2BD2sXpvVamur4%3D, PID: 17566082
-
Cirulli ET, Goldstein DB (2007) In vitro assays fail to predict in vivo effects of regulatory polymorphisms. Hum Mol Genet 16:1931–1939
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1931-1939
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
13
-
-
77952733302
-
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
-
COI: 1:CAS:528:DC%2BC3cXosl2lu74%3D, PID: 20506564
-
Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat 31:631–655
-
(2010)
Hum Mutat
, vol.31
, pp. 631-655
-
-
Cooper, D.N.1
Chen, J.M.2
Ball, E.V.3
Howells, K.4
Mort, M.5
Phillips, A.D.6
Chuzhanova, N.7
Krawczak, M.8
Kehrer-Sawatzki, H.9
Stenson, P.D.10
-
14
-
-
80052971350
-
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
-
COI: 1:CAS:528:DC%2BC3MXhtF2jtbzI, PID: 21853507
-
Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM (2011) On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 32:1075–1099
-
(2011)
Hum Mutat
, vol.32
, pp. 1075-1099
-
-
Cooper, D.N.1
Bacolla, A.2
Férec, C.3
Vasquez, K.M.4
Kehrer-Sawatzki, H.5
Chen, J.M.6
-
15
-
-
84884905922
-
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
-
COI: 1:CAS:528:DC%2BC3sXhsVOktr%2FM, PID: 23820649
-
Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet 132:1077–1130
-
(2013)
Hum Genet
, vol.132
, pp. 1077-1130
-
-
Cooper, D.N.1
Krawczak, M.2
Polychronakos, C.3
Tyler-Smith, C.4
Kehrer-Sawatzki, H.5
-
16
-
-
79960405019
-
The variant call format and VCFtools
-
COI: 1:CAS:528:DC%2BC3MXptFCqt7w%3D, PID: 21653522
-
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R, 1000 Genomes Project Analysis Group (2011) The variant call format and VCFtools. Bioinformatics 27:2156–2158
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
Albers, C.A.4
Banks, E.5
DePristo, M.A.6
Handsaker, R.E.7
Lunter, G.8
Marth, G.T.9
Sherry, S.T.10
McVean, G.11
Durbin, R.12
-
17
-
-
84898815256
-
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks
-
COI: 1:CAS:528:DC%2BC2cXmvF2ktro%3D, PID: 24599843
-
Das J, Lee HR, Sagar A, Fragoza R, Liang J, Wei X, Wang X, Mort M, Stenson PD, Cooper DN, Yu H (2014) Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. Hum Mutat 35:585–593
-
(2014)
Hum Mutat
, vol.35
, pp. 585-593
-
-
Das, J.1
Lee, H.R.2
Sagar, A.3
Fragoza, R.4
Liang, J.5
Wei, X.6
Wang, X.7
Mort, M.8
Stenson, P.D.9
Cooper, D.N.10
Yu, H.11
-
18
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
COI: 1:CAS:528:DC%2BC2cXksVaisbs%3D, PID: 24618965
-
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T (2014) Clinical interpretation and implications of whole-genome sequencing. JAMA 311:1035–1045
-
(2014)
JAMA
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
Merker, J.D.7
Goldfeder, R.L.8
Enns, G.M.9
David, S.P.10
Pakdaman, N.11
Ormond, K.E.12
Caleshu, C.13
Kingham, K.14
Klein, T.E.15
Whirl-Carrillo, M.16
Sakamoto, K.17
Wheeler, M.T.18
Butte, A.J.19
Ford, J.M.20
Boxer, L.21
Ioannidis, J.P.22
Yeung, A.C.23
Altman, R.B.24
Assimes, T.L.25
Snyder, M.26
Ashley, E.A.27
Quertermous, T.28
more..
-
19
-
-
69949176863
-
Common regulatory variation impacts gene expression in a cell type-dependent manner
-
COI: 1:CAS:528:DC%2BD1MXhtVOmsrjM, PID: 19644074
-
Dimas AS, Deutsch S, Stranger BE, Montgomery SB, Borel C, Attar-Cohen H, Ingle C, Beazley C, Gutierrez Arcelus M, Sekowska M, Gagnebin M, Nisbett J, Deloukas P, Dermitzakis ET, Antonarakis SE (2009) Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325:1246–1250
-
(2009)
Science
, vol.325
, pp. 1246-1250
-
-
Dimas, A.S.1
Deutsch, S.2
Stranger, B.E.3
Montgomery, S.B.4
Borel, C.5
Attar-Cohen, H.6
Ingle, C.7
Beazley, C.8
Gutierrez Arcelus, M.9
Sekowska, M.10
Gagnebin, M.11
Nisbett, J.12
Deloukas, P.13
Dermitzakis, E.T.14
Antonarakis, S.E.15
-
20
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1000 participants’ exomes
-
COI: 1:CAS:528:DC%2BC3sXhsVylsLbP, PID: 24055113
-
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP (2013) Actionable, pathogenic incidental findings in 1000 participants’ exomes. Am J Hum Genet 93:631–640
-
(2013)
Am J Hum Genet
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
Kim, J.H.11
Rosenthal, E.A.12
Kim, D.S.13
Tabor, H.K.14
Bamshad, M.J.15
Motulsky, A.G.16
Scott, C.R.17
Pritchard, C.C.18
Walsh, T.19
Burke, W.20
Raskind, W.H.21
Byers, P.22
Hisama, F.M.23
Nickerson, D.A.24
Jarvik, G.P.25
more..
-
21
-
-
84874732372
-
CRAVAT: cancer-related analysis of variants toolkit
-
COI: 1:CAS:528:DC%2BC3sXjtlGgsbw%3D, PID: 23325621
-
Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD, Cooper DN, Ryan M, Karchin R (2013) CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics 29:647–648
-
(2013)
Bioinformatics
, vol.29
, pp. 647-648
-
-
Douville, C.1
Carter, H.2
Kim, R.3
Niknafs, N.4
Diekhans, M.5
Stenson, P.D.6
Cooper, D.N.7
Ryan, M.8
Karchin, R.9
-
22
-
-
84954397194
-
Assessing the pathogenicity of insertion and deletion variants with the variant effect scoring tool (VEST-Indel)
-
COI: 1:CAS:528:DC%2BC2MXitVGiu7jJ, PID: 26442818
-
Douville C, Masica DL, Stenson PD, Cooper DN, Gygax DM, Kim R, Ryan M, Karchin R (2016) Assessing the pathogenicity of insertion and deletion variants with the variant effect scoring tool (VEST-Indel). Hum Mutat 37:28–35
-
(2016)
Hum Mutat
, vol.37
, pp. 28-35
-
-
Douville, C.1
Masica, D.L.2
Stenson, P.D.3
Cooper, D.N.4
Gygax, D.M.5
Kim, R.6
Ryan, M.7
Karchin, R.8
-
23
-
-
84973352728
-
Molecular findings from 537 individuals with inherited retinal disease
-
Ellingford JM, Barton S, Bhaskar S, O’Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GC (2016) Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 53(11):761–767
-
(2016)
J Med Genet
, vol.53
, Issue.11
, pp. 761-767
-
-
Ellingford, J.M.1
Barton, S.2
Bhaskar, S.3
O’Sullivan, J.4
Williams, S.G.5
Lamb, J.A.6
Panda, B.7
Sergouniotis, P.I.8
Gillespie, R.L.9
Daiger, S.P.10
Hall, G.11
Gale, T.12
Lloyd, I.C.13
Bishop, P.N.14
Ramsden, S.C.15
Black, G.C.16
-
24
-
-
84875391572
-
Ensembl 2013
-
COI: 1:CAS:528:DC%2BC38XhvV2ktrbO, PID: 23203987
-
Flicek P, Ahmed I, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, García-Girón C, Gordon L, Hourlier T, Hunt S, Juettemann T, Kähäri AK, Keenan S, Komorowska M, Kulesha E, Longden I, Maurel T, McLaren WM, Muffato M, Nag R, Overduin B, Pignatelli M, Pritchard B, Pritchard E, Riat HS, Ritchie GR, Ruffier M, Schuster M, Sheppard D, Sobral D, Taylor K, Thormann A, Trevanion S, White S, Wilder SP, Aken BL, Birney E, Cunningham F, Dunham I, Harrow J, Herrero J, Hubbard TJ, Johnson N, Kinsella R, Parker A, Spudich G, Yates A, Zadissa A, Searle SM (2013) Ensembl 2013. Nucleic Acids Res 41:D48–D55
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D48-D55
-
-
Flicek, P.1
Ahmed, I.2
Amode, M.R.3
Barrell, D.4
Beal, K.5
Brent, S.6
Carvalho-Silva, D.7
Clapham, P.8
Coates, G.9
Fairley, S.10
Fitzgerald, S.11
Gil, L.12
García-Girón, C.13
Gordon, L.14
Hourlier, T.15
Hunt, S.16
Juettemann, T.17
Kähäri, A.K.18
Keenan, S.19
Komorowska, M.20
Kulesha, E.21
Longden, I.22
Maurel, T.23
McLaren, W.M.24
Muffato, M.25
Nag, R.26
Overduin, B.27
Pignatelli, M.28
Pritchard, B.29
Pritchard, E.30
Riat, H.S.31
Ritchie, G.R.32
Ruffier, M.33
Schuster, M.34
Sheppard, D.35
Sobral, D.36
Taylor, K.37
Thormann, A.38
Trevanion, S.39
White, S.40
Wilder, S.P.41
Aken, B.L.42
Birney, E.43
Cunningham, F.44
Dunham, I.45
Harrow, J.46
Herrero, J.47
Hubbard, T.J.48
Johnson, N.49
Kinsella, R.50
Parker, A.51
Spudich, G.52
Yates, A.53
Zadissa, A.54
Searle, S.M.55
more..
-
25
-
-
79954997174
-
LOVD v. 2.0: the next generation in gene variant databases
-
COI: 1:CAS:528:DC%2BC3MXltVSqsLw%3D, PID: 21520333
-
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011) LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat 32:557–563
-
(2011)
Hum Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
den Dunnen, J.T.6
-
26
-
-
84929628001
-
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels
-
COI: 1:CAS:528:DC%2BC28Xhs1aisrjN, PID: 25573915
-
Folkman L, Yang Y, Li Z, Stantic B, Sattar A, Mort M, Cooper DN, Liu Y, Zhou Y (2015) DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. Bioinformatics 31:1599–1606
-
(2015)
Bioinformatics
, vol.31
, pp. 1599-1606
-
-
Folkman, L.1
Yang, Y.2
Li, Z.3
Stantic, B.4
Sattar, A.5
Mort, M.6
Cooper, D.N.7
Liu, Y.8
Zhou, Y.9
-
27
-
-
84946040120
-
COSMIC: exploring the world’s knowledge of somatic mutations in human cancer
-
PID: 25355519
-
Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, Ding M, Bamford S, Cole C, Ward S, Kok CY, Jia M, De T, Teague JW, Stratton MR, McDermott U, Campbell PJ (2015) COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucleic Acids Res 43(Database issue):D805–D811
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D805-D811
-
-
Forbes, S.A.1
Beare, D.2
Gunasekaran, P.3
Leung, K.4
Bindal, N.5
Boutselakis, H.6
Ding, M.7
Bamford, S.8
Cole, C.9
Ward, S.10
Kok, C.Y.11
Jia, M.12
De, T.13
Teague, J.W.14
Stratton, M.R.15
McDermott, U.16
Campbell, P.J.17
-
28
-
-
84937547912
-
Secondary findings and carrier test frequencies in a large multiethnic sample
-
PID: 26195989
-
Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E (2015) Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 7:54
-
(2015)
Genome Med
, vol.7
, pp. 54
-
-
Gambin, T.1
Jhangiani, S.N.2
Below, J.E.3
Campbell, I.M.4
Wiszniewski, W.5
Muzny, D.M.6
Staples, J.7
Morrison, A.C.8
Bainbridge, M.N.9
Penney, S.10
McGuire, A.L.11
Gibbs, R.A.12
Lupski, J.R.13
Boerwinkle, E.14
-
29
-
-
84888267800
-
Using exome data to identify malignant hyperthermia susceptibility mutations
-
COI: 1:CAS:528:DC%2BC3sXhslCmtbjE, PID: 24195946
-
Gonsalves SG, Ng D, Johnston JJ, Teer JK, NISC Comparative Sequencing Program, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG (2013) Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology 119:1043–1053
-
(2013)
Anesthesiology
, vol.119
, pp. 1043-1053
-
-
Gonsalves, S.G.1
Ng, D.2
Johnston, J.J.3
Teer, J.K.4
Stenson, P.D.5
Cooper, D.N.6
Mullikin, J.C.7
Biesecker, L.G.8
-
30
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
COI: 1:CAS:528:DC%2BC38Xlt1WmtLo%3D, PID: 22422049
-
Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ (2012) Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 14:405–410
-
(2012)
Genet Med
, vol.14
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
Biesecker, L.G.4
Dimmock, D.P.5
Evans, J.P.6
Grody, W.W.7
Hegde, M.R.8
Kalia, S.9
Korf, B.R.10
Krantz, I.11
McGuire, A.L.12
Miller, D.T.13
Murray, M.F.14
Nussbaum, R.L.15
Plon, S.E.16
Rehm, H.L.17
Jacob, H.J.18
-
31
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
COI: 1:CAS:528:DC%2BC3sXhtVKku73K, PID: 23788249
-
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565–574
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O’Daniel, J.M.9
Ormond, K.E.10
Rehm, H.L.11
Watson, M.S.12
Williams, M.S.13
Biesecker, L.G.14
-
32
-
-
84946595515
-
The human gene damage index as a gene-level approach to prioritizing exome variants
-
COI: 1:CAS:528:DC%2BC2MXhs1yksbfJ, PID: 26483451
-
Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL (2015) The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci USA 112:13615–13620
-
(2015)
Proc Natl Acad Sci USA
, vol.112
, pp. 13615-13620
-
-
Itan, Y.1
Shang, L.2
Boisson, B.3
Patin, E.4
Bolze, A.5
Moncada-Vélez, M.6
Scott, E.7
Ciancanelli, M.J.8
Lafaille, F.G.9
Markle, J.G.10
Martinez-Barricarte, R.11
de Jong, S.J.12
Kong, X.F.13
Nitschke, P.14
Belkadi, A.15
Bustamante, J.16
Puel, A.17
Boisson-Dupuis, S.18
Stenson, P.D.19
Gleeson, J.G.20
Cooper, D.N.21
Quintana-Murci, L.22
Claverie, J.M.23
Zhang, S.Y.24
Abel, L.25
Casanova, J.L.26
more..
-
33
-
-
84992389439
-
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
-
COI: 1:CAS:528:DC%2BC28XhslehurjL, PID: 27776117
-
Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, Bernstein JA, Bejerano G (2016) M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet 48:1581–1586
-
(2016)
Nat Genet
, vol.48
, pp. 1581-1586
-
-
Jagadeesh, K.A.1
Wenger, A.M.2
Berger, M.J.3
Guturu, H.4
Stenson, P.D.5
Cooper, D.N.6
Bernstein, J.A.7
Bejerano, G.8
-
34
-
-
85002966400
-
Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population
-
COI: 1:CAS:528:DC%2BC2sXitl2hsbo%3D, PID: 27646533
-
Jagannathan S, Bradley RK (2016) Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population. Genome Res 26:1639–1650
-
(2016)
Genome Res
, vol.26
, pp. 1639-1650
-
-
Jagannathan, S.1
Bradley, R.K.2
-
35
-
-
84921633944
-
Phen-Gen: combining phenotype and genotype to analyze rare disorders
-
COI: 1:CAS:528:DC%2BC2cXht1KktrzK, PID: 25086502
-
Javed A, Agrawal S, Ng PC (2014) Phen-Gen: combining phenotype and genotype to analyze rare disorders. Nat Methods 11:935–937
-
(2014)
Nat Methods
, vol.11
, pp. 935-937
-
-
Javed, A.1
Agrawal, S.2
Ng, P.C.3
-
36
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
COI: 1:CAS:528:DC%2BC38XovValtbY%3D, PID: 22703879
-
Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG (2012) Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 91:97–108
-
(2012)
Am J Hum Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
37
-
-
84984914666
-
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
-
COI: 1:CAS:528:DC%2BC2MXotlGguro%3D, PID: 26046366
-
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG (2015) Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet 96:913–925
-
(2015)
Am J Hum Genet
, vol.96
, pp. 913-925
-
-
Johnston, J.J.1
Lewis, K.L.2
Ng, D.3
Singh, L.N.4
Wynter, J.5
Brewer, C.6
Brooks, B.P.7
Brownell, I.8
Candotti, F.9
Gonsalves, S.G.10
Hart, S.P.11
Kong, H.H.12
Rother, K.I.13
Sokolic, R.14
Solomon, B.D.15
Zein, W.M.16
Cooper, D.N.17
Stenson, P.D.18
Mullikin, J.C.19
Biesecker, L.G.20
more..
-
38
-
-
84939157303
-
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
-
PID: 25569433
-
Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N (2015) Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17:782–788
-
(2015)
Genet Med
, vol.17
, pp. 782-788
-
-
Jurgens, J.1
Ling, H.2
Hetrick, K.3
Pugh, E.4
Schiettecatte, F.5
Doheny, K.6
Hamosh, A.7
Avramopoulos, D.8
Valle, D.9
Sobreira, N.10
-
39
-
-
84954361314
-
A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease
-
COI: 1:CAS:528:DC%2BC2MXitVGiu7vF, PID: 26466920
-
Kamat MA, Bacolla A, Cooper DN, Chuzhanova N (2016) A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease. Hum Mutat 37:65–73
-
(2016)
Hum Mutat
, vol.37
, pp. 65-73
-
-
Kamat, M.A.1
Bacolla, A.2
Cooper, D.N.3
Chuzhanova, N.4
-
40
-
-
84979866944
-
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
-
Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP (2015) Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Hum Genomics 9:12
-
(2015)
Hum Genomics
, vol.9
, pp. 12
-
-
Karageorgos, I.1
Mizzi, C.2
Giannopoulou, E.3
Pavlidis, C.4
Peters, B.A.5
Zagoriti, Z.6
Stenson, P.D.7
Mitropoulos, K.8
Borg, J.9
Kalofonos, H.P.10
Drmanac, R.11
Stubbs, A.12
van der Spek, P.13
Cooper, D.N.14
Katsila, T.15
Patrinos, G.P.16
-
41
-
-
69249232047
-
A highly annotated whole-genome sequence of a Korean individual
-
COI: 1:CAS:528:DC%2BD1MXotlSgurs%3D, PID: 19587683
-
Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS (2009) A highly annotated whole-genome sequence of a Korean individual. Nature 460:1011–1015
-
(2009)
Nature
, vol.460
, pp. 1011-1015
-
-
Kim, J.I.1
Ju, Y.S.2
Park, H.3
Kim, S.4
Lee, S.5
Yi, J.H.6
Mudge, J.7
Miller, N.A.8
Hong, D.9
Bell, C.J.10
Kim, H.S.11
Chung, I.S.12
Lee, W.C.13
Lee, J.S.14
Seo, S.H.15
Yun, J.Y.16
Woo, H.N.17
Lee, H.18
Suh, D.19
Lee, S.20
Kim, H.J.21
Yavartanoo, M.22
Kwak, M.23
Zheng, Y.24
Lee, M.K.25
Park, H.26
Kim, J.Y.27
Gokcumen, O.28
Mills, R.E.29
Zaranek, A.W.30
Thakuria, J.31
Wu, X.32
Kim, R.W.33
Huntley, J.J.34
Luo, S.35
Schroth, G.P.36
Wu, T.D.37
Kim, H.38
Yang, K.S.39
Park, W.Y.40
Kim, H.41
Church, G.M.42
Lee, C.43
Kingsmore, S.F.44
Seo, J.S.45
more..
-
42
-
-
85019313573
-
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants
-
PID: 28180317
-
Knecht C, Mort M, Junge O, Cooper DN, Krawczak M, Caliebe A (2017) IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acids Res 45:e13
-
(2017)
Nucleic Acids Res
, vol.45
-
-
Knecht, C.1
Mort, M.2
Junge, O.3
Cooper, D.N.4
Krawczak, M.5
Caliebe, A.6
-
43
-
-
84976904305
-
ClinVar: public archive of interpretations of clinically relevant variants
-
PID: 26582918
-
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin-Salomon R, Rubinstein W, Maglott DR (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44:D862–D868
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D862-D868
-
-
Landrum, M.J.1
Lee, J.M.2
Benson, M.3
Brown, G.4
Chao, C.5
Chitipiralla, S.6
Gu, B.7
Hart, J.8
Hoffman, D.9
Hoover, J.10
Jang, W.11
Katz, K.12
Ovetsky, M.13
Riley, G.14
Sethi, A.15
Tully, R.16
Villamarin-Salomon, R.17
Rubinstein, W.18
Maglott, D.R.19
-
44
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
COI: 1:CAS:528:DC%2BC28XhtlOnsbbP, PID: 27535533
-
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285–291
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
Fennell, T.6
O’Donnell-Luria, A.H.7
Ware, J.S.8
Hill, A.J.9
Cummings, B.B.10
Tukiainen, T.11
Birnbaum, D.P.12
Kosmicki, J.A.13
Duncan, L.E.14
Estrada, K.15
Zhao, F.16
Zou, J.17
Pierce-Hoffman, E.18
Berghout, J.19
Cooper, D.N.20
Deflaux, N.21
DePristo, M.22
Do, R.23
Flannick, J.24
Fromer, M.25
Gauthier, L.26
Goldstein, J.27
Gupta, N.28
Howrigan, D.29
Kiezun, A.30
Kurki, M.I.31
Moonshine, A.L.32
Natarajan, P.33
Orozco, L.34
Peloso, G.M.35
Poplin, R.36
Rivas, M.A.37
Ruano-Rubio, V.38
Rose, S.A.39
Ruderfer, D.M.40
Shakir, K.41
Stenson, P.D.42
Stevens, C.43
Thomas, B.P.44
Tiao, G.45
Tusie-Luna, M.T.46
Weisburd, B.47
Won, H.H.48
Yu, D.49
Altshuler, D.M.50
Ardissino, D.51
Boehnke, M.52
Danesh, J.53
Donnelly, S.54
Elosua, R.55
Florez, J.C.56
Gabriel, S.B.57
Getz, G.58
Glatt, S.J.59
Hultman, C.M.60
Kathiresan, S.61
Laakso, M.62
McCarroll, S.63
McCarthy, M.I.64
McGovern, D.65
McPherson, R.66
Neale, B.M.67
Palotie, A.68
Purcell, S.M.69
Saleheen, D.70
Scharf, J.M.71
Sklar, P.72
Sullivan, P.F.73
Tuomilehto, J.74
Tsuang, M.T.75
Watkins, H.C.76
Wilson, J.G.77
Daly, M.J.78
MacArthur, D.G.79
more..
-
45
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
COI: 1:CAS:528:DC%2BD1MXhtlWls7vL, PID: 19734154
-
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744–2750
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
46
-
-
84990200874
-
ExonImpact: prioritizing pathogenic alternative splicing events
-
PID: 27604408
-
Li M, Feng W, Zhang X, Yang Y, Wang K, Mort M, Cooper DN, Wang Y, Zhou Y, Liu Y (2017) ExonImpact: prioritizing pathogenic alternative splicing events. Hum Mutat 38:16–24
-
(2017)
Hum Mutat
, vol.38
, pp. 16-24
-
-
Li, M.1
Feng, W.2
Zhang, X.3
Yang, Y.4
Wang, K.5
Mort, M.6
Cooper, D.N.7
Wang, Y.8
Zhou, Y.9
Liu, Y.10
-
47
-
-
84881613239
-
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations
-
COI: 1:CAS:528:DC%2BC3sXhtlSitr7M, PID: 23843252
-
Liu X, Jian X, Boerwinkle E (2013) dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat 34(9):E2393–E2402
-
(2013)
Hum Mutat
, vol.34
, Issue.9
, pp. E2393-E2402
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
48
-
-
84957942283
-
dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs
-
PID: 26555599
-
Liu X, Wu C, Li C, Boerwinkle E (2016) dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat 37:235–241
-
(2016)
Hum Mutat
, vol.37
, pp. 235-241
-
-
Liu, X.1
Wu, C.2
Li, C.3
Boerwinkle, E.4
-
49
-
-
84855896680
-
A combined functional annotation score for non-synonymous variants
-
COI: 1:CAS:528:DC%2BC38XksFWmurs%3D, PID: 22261837
-
Lopes MC, Joyce C, Ritchie GR, John SL, Cunningham F, Asimit J, Zeggini E (2012) A combined functional annotation score for non-synonymous variants. Hum Hered 73:47–51
-
(2012)
Hum Hered
, vol.73
, pp. 47-51
-
-
Lopes, M.C.1
Joyce, C.2
Ritchie, G.R.3
John, S.L.4
Cunningham, F.5
Asimit, J.6
Zeggini, E.7
-
50
-
-
84921912496
-
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
-
COI: 1:CAS:528:DC%2BC2MXksFyqsr0%3D, PID: 25351510
-
Lopes LR, Syrris P, Guttmann OP, O’Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM (2015) Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart 101:294–301
-
(2015)
Heart
, vol.101
, pp. 294-301
-
-
Lopes, L.R.1
Syrris, P.2
Guttmann, O.P.3
O’Mahony, C.4
Tang, H.C.5
Dalageorgou, C.6
Jenkins, S.7
Hubank, M.8
Monserrat, L.9
McKenna, W.J.10
Plagnol, V.11
Elliott, P.M.12
-
51
-
-
84896385812
-
mtDNA variation and analysis using Mitomap and Mitomaster
-
Lott MT, Leipzig JN, Derbeneva O, Xie HM, Chalkia D, Sarmady M, Procaccio V, Wallace DC (2013) mtDNA variation and analysis using Mitomap and Mitomaster. Curr Protoc Bioinform 44:1.23.1-26
-
(2013)
Curr Protoc Bioinform
, vol.44
-
-
Lott, M.T.1
Leipzig, J.N.2
Derbeneva, O.3
Xie, H.M.4
Chalkia, D.5
Sarmady, M.6
Procaccio, V.7
Wallace, D.C.8
-
52
-
-
84988962696
-
The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease
-
PID: 27564311
-
Lugo-Martinez J, Pejaver V, Pagel KA, Jain S, Mort M, Cooper DN, Mooney SD, Radivojac P (2016) The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease. PLoS Comput Biol 12:e1005091
-
(2016)
PLoS Comput Biol
, vol.12
-
-
Lugo-Martinez, J.1
Pejaver, V.2
Pagel, K.A.3
Jain, S.4
Mort, M.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
53
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
COI: 1:CAS:528:DC%2BC38XitFGqur0%3D, PID: 22344438
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335:823–828
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
Jostins, L.7
Habegger, L.8
Pickrell, J.K.9
Montgomery, S.B.10
Albers, C.A.11
Zhang, Z.D.12
Conrad, D.F.13
Lunter, G.14
Zheng, H.15
Ayub, Q.16
DePristo, M.A.17
Banks, E.18
Hu, M.19
Handsaker, R.E.20
Rosenfeld, J.A.21
Fromer, M.22
Jin, M.23
Mu, X.J.24
Khurana, E.25
Ye, K.26
Kay, M.27
Saunders, G.I.28
Suner, M.M.29
Hunt, T.30
Barnes, I.H.31
Amid, C.32
Carvalho-Silva, D.R.33
Bignell, A.H.34
Snow, C.35
Yngvadottir, B.36
Bumpstead, S.37
Cooper, D.N.38
Xue, Y.39
Romero, I.G.40
Wang, J.41
Li, Y.42
Gibbs, R.A.43
McCarroll, S.A.44
Dermitzakis, E.T.45
Pritchard, J.K.46
Barrett, J.C.47
Harrow, J.48
Hurles, M.E.49
Gerstein, M.B.50
Tyler-Smith, C.51
more..
-
54
-
-
84908887049
-
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
-
COI: 1:CAS:528:DC%2BC2cXhs1GntLvO, PID: 25044680
-
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE (2014) Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 35:1203–1210
-
(2014)
Hum Mutat
, vol.35
, pp. 1203-1210
-
-
Makrythanasis, P.1
Nelis, M.2
Santoni, F.A.3
Guipponi, M.4
Vannier, A.5
Béna, F.6
Gimelli, S.7
Stathaki, E.8
Temtamy, S.9
Mégarbané, A.10
Masri, A.11
Aglan, M.S.12
Zaki, M.S.13
Bottani, A.14
Fokstuen, S.15
Gwanmesia, L.16
Aliferis, K.17
Bustamante Eduardo, M.18
Stamoulis, G.19
Psoni, S.20
Kitsiou-Tzeli, S.21
Fryssira, H.22
Kanavakis, E.23
Al-Allawi, N.24
Sefiani, A.25
Al Hait, S.26
Elalaoui, S.C.27
Jalkh, N.28
Al-Gazali, L.29
Al-Jasmi, F.30
Bouhamed, H.C.31
Abdalla, E.32
Cooper, D.N.33
Hamamy, H.34
Antonarakis, S.E.35
more..
-
55
-
-
80052825195
-
The functional spectrum of low-frequency coding variation
-
PID: 21917140
-
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R, 1000 Genomes Project (2011) The functional spectrum of low-frequency coding variation. Genome Biol 12:R84
-
(2011)
Genome Biol
, vol.12
, pp. R84
-
-
Marth, G.T.1
Yu, F.2
Indap, A.R.3
Garimella, K.4
Gravel, S.5
Leong, W.F.6
Tyler-Smith, C.7
Bainbridge, M.8
Blackwell, T.9
Zheng-Bradley, X.10
Chen, Y.11
Challis, D.12
Clarke, L.13
Ball, E.V.14
Cibulskis, K.15
Cooper, D.N.16
Fulton, B.17
Hartl, C.18
Koboldt, D.19
Muzny, D.20
Smith, R.21
Sougnez, C.22
Stewart, C.23
Ward, A.24
Yu, J.25
Xue, Y.26
Altshuler, D.27
Bustamante, C.D.28
Clark, A.G.29
Daly, M.30
DePristo, M.31
Flicek, P.32
Gabriel, S.33
Mardis, E.34
Palotie, A.35
Gibbs, R.36
more..
-
56
-
-
84875404794
-
The UCSC Genome Browser database: extensions and updates 2013
-
COI: 1:CAS:528:DC%2BC38XhvV2ksbjE, PID: 23155063
-
Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, Wong M, Sloan CA, Rosenbloom KR, Roe G, Rhead B, Raney BJ, Pohl A, Malladi VS, Li CH, Lee BT, Learned K, Kirkup V, Hsu F, Heitner S, Harte RA, Haeussler M, Guruvadoo L, Goldman M, Giardine BM, Fujita PA, Dreszer TR, Diekhans M, Cline MS, Clawson H, Barber GP, Haussler D, Kent WJ (2013) The UCSC Genome Browser database: extensions and updates 2013. Nucleic Acids Res 41(Database issue):D64–D69
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D64-D69
-
-
Meyer, L.R.1
Zweig, A.S.2
Hinrichs, A.S.3
Karolchik, D.4
Kuhn, R.M.5
Wong, M.6
Sloan, C.A.7
Rosenbloom, K.R.8
Roe, G.9
Rhead, B.10
Raney, B.J.11
Pohl, A.12
Malladi, V.S.13
Li, C.H.14
Lee, B.T.15
Learned, K.16
Kirkup, V.17
Hsu, F.18
Heitner, S.19
Harte, R.A.20
Haeussler, M.21
Guruvadoo, L.22
Goldman, M.23
Giardine, B.M.24
Fujita, P.A.25
Dreszer, T.R.26
Diekhans, M.27
Cline, M.S.28
Clawson, H.29
Barber, G.P.30
Haussler, D.31
Kent, W.J.32
more..
-
57
-
-
84921890577
-
Copy number variations and human genetic disease
-
COI: 1:CAS:528:DC%2BC2cXhvVyltLrL, PID: 25198053
-
Mikhail FM (2014) Copy number variations and human genetic disease. Curr Opin Pediatr 26:646–652
-
(2014)
Curr Opin Pediatr
, vol.26
, pp. 646-652
-
-
Mikhail, F.M.1
-
58
-
-
84892666434
-
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
-
PID: 24451234
-
Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD (2014) MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol 15:R19
-
(2014)
Genome Biol
, vol.15
, pp. R19
-
-
Mort, M.1
Sterne-Weiler, T.2
Li, B.3
Ball, E.V.4
Cooper, D.N.5
Radivojac, P.6
Sanford, J.R.7
Mooney, S.D.8
-
59
-
-
84884506830
-
Interpreting secondary cardiac disease variants in an exome cohort
-
PID: 23861362
-
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG (2013) Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet 6:337–346
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 337-346
-
-
Ng, D.1
Johnston, J.J.2
Teer, J.K.3
Singh, L.N.4
Peller, L.C.5
Wynter, J.S.6
Lewis, K.L.7
Cooper, D.N.8
Stenson, P.D.9
Mullikin, J.C.10
Biesecker, L.G.11
-
60
-
-
84867449920
-
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
-
PID: 22736453
-
Patrinos GP, Cooper DN, van Mulligen E, Gkantouna V, Tzimas G, Tatum Z, Schultes E, Roos M, Mons B (2012) Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum Mutat 33:1503–1512
-
(2012)
Hum Mutat
, vol.33
, pp. 1503-1512
-
-
Patrinos, G.P.1
Cooper, D.N.2
van Mulligen, E.3
Gkantouna, V.4
Tzimas, G.5
Tatum, Z.6
Schultes, E.7
Roos, M.8
Mons, B.9
-
61
-
-
84885310008
-
Towards precision medicine: advances in computational approaches for analysis of human variants
-
COI: 1:CAS:528:DC%2BC3sXhsVehtb%2FE, PID: 23962656
-
Peterson TA, Doughty E, Kann MG (2013) Towards precision medicine: advances in computational approaches for analysis of human variants. J Mol Biol 425:4047–4063
-
(2013)
J Mol Biol
, vol.425
, pp. 4047-4063
-
-
Peterson, T.A.1
Doughty, E.2
Kann, M.G.3
-
62
-
-
84991242876
-
Regulatory single-nucleotide variant predictor increases predictive performance of functional regulatory variants
-
COI: 1:CAS:528:DC%2BC28Xhs1Krsb%2FK, PID: 27406314
-
Peterson TA, Mort M, Cooper DN, Radivojac P, Kann MG, Mooney SD (2016) Regulatory single-nucleotide variant predictor increases predictive performance of functional regulatory variants. Hum Mutat 37:1137–1143
-
(2016)
Hum Mutat
, vol.37
, pp. 1137-1143
-
-
Peterson, T.A.1
Mort, M.2
Cooper, D.N.3
Radivojac, P.4
Kann, M.G.5
Mooney, S.D.6
-
63
-
-
84992463393
-
Actionable genes, core databases, and locus-specific databases
-
COI: 1:CAS:528:DC%2BC28XhvVWnurvO, PID: 27600092
-
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G (2016) Actionable genes, core databases, and locus-specific databases. Hum Mutat 37:1299–1307
-
(2016)
Hum Mutat
, vol.37
, pp. 1299-1307
-
-
Pinard, A.1
Miltgen, M.2
Blanchard, A.3
Mathieu, H.4
Desvignes, J.P.5
Salgado, D.6
Fabre, A.7
Arnaud, P.8
Barré, L.9
Krahn, M.10
Grandval, P.11
Olschwang, S.12
Zaffran, S.13
Boileau, C.14
Béroud, C.15
Collod-Béroud, G.16
-
64
-
-
84891767394
-
RefSeq: an update on mammalian reference sequences
-
COI: 1:CAS:528:DC%2BC2cXoslen, PID: 24259432
-
Pruitt KD, Brown GR, Hiatt SM, Thibaud-Nissen F, Astashyn A, Ermolaeva O, Farrell CM, Hart J, Landrum MJ, McGarvey KM, Murphy MR, O’Leary NA, Pujar S, Rajput B, Rangwala SH, Riddick LD, Shkeda A, Sun H, Tamez P, Tully RE, Wallin C, Webb D, Weber J, Wu W, DiCuccio M, Kitts P, Maglott DR, Murphy TD, Ostell JM (2014) RefSeq: an update on mammalian reference sequences. Nucleic Acids Res 42(Database issue):D756–D763
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D756-D763
-
-
Pruitt, K.D.1
Brown, G.R.2
Hiatt, S.M.3
Thibaud-Nissen, F.4
Astashyn, A.5
Ermolaeva, O.6
Farrell, C.M.7
Hart, J.8
Landrum, M.J.9
McGarvey, K.M.10
Murphy, M.R.11
O’Leary, N.A.12
Pujar, S.13
Rajput, B.14
Rangwala, S.H.15
Riddick, L.D.16
Shkeda, A.17
Sun, H.18
Tamez, P.19
Tully, R.E.20
Wallin, C.21
Webb, D.22
Weber, J.23
Wu, W.24
DiCuccio, M.25
Kitts, P.26
Maglott, D.R.27
Murphy, T.D.28
Ostell, J.M.29
more..
-
65
-
-
1842684068
-
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
-
Rat Genome Sequencing Project Consortium (2004) Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 428:493–521
-
(2004)
Nature
, vol.428
, pp. 493-521
-
-
-
66
-
-
34247352040
-
Evolutionary and biomedical insights from the rhesus macaque genome
-
Rhesus Macaque Genome Sequencing and Analysis Consortium (2007) Evolutionary and biomedical insights from the rhesus macaque genome. Science 316:222–234
-
(2007)
Science
, vol.316
, pp. 222-234
-
-
-
67
-
-
84929015299
-
Effect of predicted protein-truncating genetic variants on the human transcriptome
-
COI: 1:CAS:528:DC%2BC2MXnslGjtrs%3D, PID: 25954003
-
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, GTEx Consortium, Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG (2015) Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348:666–669
-
(2015)
Science
, vol.348
, pp. 666-669
-
-
Rivas, M.A.1
Pirinen, M.2
Conrad, D.F.3
Lek, M.4
Tsang, E.K.5
Karczewski, K.J.6
Maller, J.B.7
Kukurba, K.R.8
DeLuca, D.S.9
Fromer, M.10
Ferreira, P.G.11
Smith, K.S.12
Zhang, R.13
Zhao, F.14
Banks, E.15
Poplin, R.16
Ruderfer, D.M.17
Purcell, S.M.18
Tukiainen, T.19
Minikel, E.V.20
Stenson, P.D.21
Cooper, D.N.22
Huang, K.H.23
Sullivan, T.J.24
Nedzel, J.25
Bustamante, C.D.26
Li, J.B.27
Daly, M.J.28
Guigo, R.29
Donnelly, P.30
Ardlie, K.31
Sammeth, M.32
Dermitzakis, E.T.33
McCarthy, M.I.34
Montgomery, S.B.35
Lappalainen, T.36
MacArthur, D.G.37
more..
-
68
-
-
78651271733
-
Integrative genomics viewer
-
COI: 1:CAS:528:DC%2BC3MXjsFWrtg%3D%3D, PID: 21221095
-
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotechnol 29:24–26
-
(2011)
Nat Biotechnol
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsdóttir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
Getz, G.6
Mesirov, J.P.7
-
69
-
-
84863230553
-
Insights into hominid evolution from the gorilla genome sequence
-
COI: 1:CAS:528:DC%2BC38XjtlOlsbw%3D, PID: 22398555
-
Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O’Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R (2012) Insights into hominid evolution from the gorilla genome sequence. Nature 483:169–175
-
(2012)
Nature
, vol.483
, pp. 169-175
-
-
Scally, A.1
Dutheil, J.Y.2
Hillier, L.W.3
Jordan, G.E.4
Goodhead, I.5
Herrero, J.6
Hobolth, A.7
Lappalainen, T.8
Mailund, T.9
Marques-Bonet, T.10
McCarthy, S.11
Montgomery, S.H.12
Schwalie, P.C.13
Tang, Y.A.14
Ward, M.C.15
Xue, Y.16
Yngvadottir, B.17
Alkan, C.18
Andersen, L.N.19
Ayub, Q.20
Ball, E.V.21
Beal, K.22
Bradley, B.J.23
Chen, Y.24
Clee, C.M.25
Fitzgerald, S.26
Graves, T.A.27
Gu, Y.28
Heath, P.29
Heger, A.30
Karakoc, E.31
Kolb-Kokocinski, A.32
Laird, G.K.33
Lunter, G.34
Meader, S.35
Mort, M.36
Mullikin, J.C.37
Munch, K.38
O’Connor, T.D.39
Phillips, A.D.40
Prado-Martinez, J.41
Rogers, A.S.42
Sajjadian, S.43
Schmidt, D.44
Shaw, K.45
Simpson, J.T.46
Stenson, P.D.47
Turner, D.J.48
Vigilant, L.49
Vilella, A.J.50
Whitener, W.51
Zhu, B.52
Cooper, D.N.53
de Jong, P.54
Dermitzakis, E.T.55
Eichler, E.E.56
Flicek, P.57
Goldman, N.58
Mundy, N.I.59
Ning, Z.60
Odom, D.T.61
Ponting, C.P.62
Quail, M.A.63
Ryder, O.A.64
Searle, S.M.65
Warren, W.C.66
Wilson, R.K.67
Schierup, M.H.68
Rogers, J.69
Tyler-Smith, C.70
Durbin, R.71
more..
-
70
-
-
84897456458
-
MutationTaster2: mutation prediction for the deep-sequencing age
-
COI: 1:CAS:528:DC%2BC2cXltFaisb0%3D, PID: 24681721
-
Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362
-
(2014)
Nat Methods
, vol.11
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
71
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
COI: 1:CAS:528:DC%2BD3MXjtlWmtb0%3D, PID: 11125122
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29:308–311
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
72
-
-
84979633655
-
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
-
COI: 1:CAS:528:DC%2BC28Xht12jt7fI, PID: 27009626
-
Shibata A, Okuno T, Rahman MA, Azuma Y, Takeda J, Masuda A, Selcen D, Engel AG, Ohno K (2016) IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. J Hum Genet 61:633–640
-
(2016)
J Hum Genet
, vol.61
, pp. 633-640
-
-
Shibata, A.1
Okuno, T.2
Rahman, M.A.3
Azuma, Y.4
Takeda, J.5
Masuda, A.6
Selcen, D.7
Engel, A.G.8
Ohno, K.9
-
73
-
-
84871578629
-
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
-
COI: 1:CAS:528:DC%2BC3sXit1aq, PID: 23033316
-
Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR (2013) Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 34:57–65
-
(2013)
Hum Mutat
, vol.34
, pp. 57-65
-
-
Shihab, H.A.1
Gough, J.2
Cooper, D.N.3
Stenson, P.D.4
Barker, G.L.5
Edwards, K.J.6
Day, I.N.7
Gaunt, T.R.8
-
74
-
-
84929628542
-
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
-
COI: 1:CAS:528:DC%2BC28XhtFyltLzI, PID: 25583119
-
Shihab HA, Rogers MF, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR, Campbell C (2015) An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31:1536–1543
-
(2015)
Bioinformatics
, vol.31
, pp. 1536-1543
-
-
Shihab, H.A.1
Rogers, M.F.2
Gough, J.3
Mort, M.4
Cooper, D.N.5
Day, I.N.6
Gaunt, T.R.7
Campbell, C.8
-
75
-
-
84864430562
-
SIFT web server: predicting effects of amino acid substitutions on proteins
-
COI: 1:CAS:528:DC%2BC3sXjtVCqtLw%3D, PID: 22689647
-
Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452–W457
-
(2012)
Nucleic Acids Res
, vol.40
, pp. W452-W457
-
-
Sim, N.L.1
Kumar, P.2
Hu, J.3
Henikoff, S.4
Schneider, G.5
Ng, P.C.6
-
76
-
-
84891837451
-
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
COI: 1:CAS:528:DC%2BC3sXhsFemt7%2FP, PID: 24077912
-
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9
-
(2014)
Hum Genet
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Shaw, K.4
Phillips, A.5
Cooper, D.N.6
-
77
-
-
84981169037
-
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
-
COI: 1:CAS:528:DC%2BC28Xhtlejtb3L, PID: 26681312
-
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18:823–832
-
(2016)
Genet Med
, vol.18
, pp. 823-832
-
-
Susswein, L.R.1
Marshall, M.L.2
Nusbaum, R.3
Vogel Postula, K.J.4
Weissman, S.M.5
Yackowski, L.6
Vaccari, E.M.7
Bissonnette, J.8
Booker, J.K.9
Cremona, M.L.10
Gibellini, F.11
Murphy, P.D.12
Pineda-Alvarez, D.E.13
Pollevick, G.D.14
Xu, Z.15
Richard, G.16
Bale, S.17
Klein, R.T.18
Hruska, K.S.19
Chung, W.K.20
more..
-
78
-
-
84905912748
-
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results
-
COI: 1:CAS:528:DC%2BC2cXht1Oqs7jI, PID: 25087612
-
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O’Donnell CJ, Rich SS, Nickerson DA, NHLBI Exome Sequencing Project, Bamshad MJ (2014) Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet 95:183–193
-
(2014)
Am J Hum Genet
, vol.95
, pp. 183-193
-
-
Tabor, H.K.1
Auer, P.L.2
Jamal, S.M.3
Chong, J.X.4
Yu, J.H.5
Gordon, A.S.6
Graubert, T.A.7
O’Donnell, C.J.8
Rich, S.S.9
Nickerson, D.A.10
Bamshad, M.J.11
-
79
-
-
84991628639
-
Deep sequencing of 10,000 human genomes
-
COI: 1:CAS:528:DC%2BC28Xhs1Srt7fK, PID: 27702888
-
Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC (2016) Deep sequencing of 10,000 human genomes. Proc Natl Acad Sci USA 113:11901–11906
-
(2016)
Proc Natl Acad Sci USA
, vol.113
, pp. 11901-11906
-
-
Telenti, A.1
Pierce, L.C.2
Biggs, W.H.3
di Iulio, J.4
Wong, E.H.5
Fabani, M.M.6
Kirkness, E.F.7
Moustafa, A.8
Shah, N.9
Xie, C.10
Brewerton, S.C.11
Bulsara, N.12
Garner, C.13
Metzker, G.14
Sandoval, E.15
Perkins, B.A.16
Och, F.J.17
Turpaz, Y.18
Venter, J.C.19
-
80
-
-
84864147871
-
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions
-
COI: 1:CAS:528:DC%2BC38XhtVSgsbvM, PID: 22611130
-
Teng M, Ichikawa S, Padgett LR, Wang Y, Mort M, Cooper DN, Koller DL, Foroud T, Edenberg HJ, Econs MJ, Liu Y (2012) regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. Bioinformatics 28:1879–1886
-
(2012)
Bioinformatics
, vol.28
, pp. 1879-1886
-
-
Teng, M.1
Ichikawa, S.2
Padgett, L.R.3
Wang, Y.4
Mort, M.5
Cooper, D.N.6
Koller, D.L.7
Foroud, T.8
Edenberg, H.J.9
Econs, M.J.10
Liu, Y.11
-
81
-
-
84880383420
-
PharmGKB: the pharmacogenomics knowledge base
-
COI: 1:CAS:528:DC%2BC3sXhslaku77O, PID: 23824865
-
Thorn CF, Klein TE, Altman RB (2013) PharmGKB: the pharmacogenomics knowledge base. Methods Mol Biol 1015:311–320
-
(2013)
Methods Mol Biol
, vol.1015
, pp. 311-320
-
-
Thorn, C.F.1
Klein, T.E.2
Altman, R.B.3
-
82
-
-
77956467633
-
Sequencing and analysis of an Irish human genome
-
PID: 20822512
-
Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, Friel N, Bradley DG, Hardiman O, Evans A, Wilson JF, Loftus B (2010) Sequencing and analysis of an Irish human genome. Genome Biol 11:R91
-
(2010)
Genome Biol
, vol.11
, pp. R91
-
-
Tong, P.1
Prendergast, J.G.2
Lohan, A.J.3
Farrington, S.M.4
Cronin, S.5
Friel, N.6
Bradley, D.G.7
Hardiman, O.8
Evans, A.9
Wilson, J.F.10
Loftus, B.11
-
83
-
-
84949257272
-
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
-
COI: 1:CAS:528:DC%2BC2MXitV2hs7rK, PID: 26246501
-
Turner TN, Douville C, Kim D, Stenson PD, Cooper DN, Chakravarti A, Karchin R (2015) Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Hum Mol Genet 24:5995–6002
-
(2015)
Hum Mol Genet
, vol.24
, pp. 5995-6002
-
-
Turner, T.N.1
Douville, C.2
Kim, D.3
Stenson, P.D.4
Cooper, D.N.5
Chakravarti, A.6
Karchin, R.7
-
84
-
-
84942316536
-
Complex and multi-allelic copy number variation in human disease
-
Usher CL, McCarroll SA (2015) Complex and multi-allelic copy number variation in human disease. Brief Funct Genom 14:329–338
-
(2015)
Brief Funct Genom
, vol.14
, pp. 329-338
-
-
Usher, C.L.1
McCarroll, S.A.2
-
85
-
-
85011933920
-
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
-
PID: 27532257
-
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H (2017) Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med 19:192–203
-
(2017)
Genet Med
, vol.19
, pp. 192-203
-
-
Walsh, R.1
Thomson, K.L.2
Ware, J.S.3
Funke, B.H.4
Woodley, J.5
McGuire, K.J.6
Mazzarotto, F.7
Blair, E.8
Seller, A.9
Taylor, J.C.10
Minikel, E.V.11
MacArthur, D.G.12
Farrall, M.13
Cook, S.A.14
Watkins, H.15
-
86
-
-
84992417360
-
Genome-wide significance testing of variation from single case exomes
-
COI: 1:CAS:528:DC%2BC28XhslehurjP, PID: 27776118
-
Wilfert AB, Chao KR, Kaushal M, Jain S, Zöllner S, Adams DR, Conrad DF (2016) Genome-wide significance testing of variation from single case exomes. Nat Genet 48:1455–1461
-
(2016)
Nat Genet
, vol.48
, pp. 1455-1461
-
-
Wilfert, A.B.1
Chao, K.R.2
Kaushal, M.3
Jain, S.4
Zöllner, S.5
Adams, D.R.6
Conrad, D.F.7
-
87
-
-
84944080801
-
Prioritization of nonsynonymous single nucleotide variants for exome sequencing studies via integrative learning on multiple genomic data
-
COI: 1:CAS:528:DC%2BC2MXhs1KksrjN, PID: 26459872
-
Wu M, Wu J, Chen T, Jiang R (2015) Prioritization of nonsynonymous single nucleotide variants for exome sequencing studies via integrative learning on multiple genomic data. Sci Rep 5:14955
-
(2015)
Sci Rep
, vol.5
, pp. 14955
-
-
Wu, M.1
Wu, J.2
Chen, T.3
Jiang, R.4
-
88
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
-
COI: 1:CAS:528:DC%2BC38XhvVWisrjP, PID: 23217326
-
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C, The 1000 Genomes Project Consortium (2012) Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91:1022–1032
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
Phillips, A.D.7
Shaw, K.8
Stenson, P.D.9
Cooper, D.N.10
Tyler-Smith, C.11
-
89
-
-
84927589000
-
Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
-
COI: 1:CAS:528:DC%2BC2MXlvV2lsr8%3D, PID: 25859046
-
Xue Y, Prado-Martinez J, Sudmant PH, Narasimhan V, Ayub Q, Szpak M, Frandsen P, Chen Y, Yngvadottir B, Cooper DN, de Manuel M, Hernandez-Rodriguez J, Lobon I, Siegismund HR, Pagani L, Quail MA, Hvilsom C, Mudakikwa A, Eichler EE, Cranfield MR, Marques-Bonet T, Tyler-Smith C, Scally A (2015) Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science 348:242–245
-
(2015)
Science
, vol.348
, pp. 242-245
-
-
Xue, Y.1
Prado-Martinez, J.2
Sudmant, P.H.3
Narasimhan, V.4
Ayub, Q.5
Szpak, M.6
Frandsen, P.7
Chen, Y.8
Yngvadottir, B.9
Cooper, D.N.10
de Manuel, M.11
Hernandez-Rodriguez, J.12
Lobon, I.13
Siegismund, H.R.14
Pagani, L.15
Quail, M.A.16
Hvilsom, C.17
Mudakikwa, A.18
Eichler, E.E.19
Cranfield, M.R.20
Marques-Bonet, T.21
Tyler-Smith, C.22
Scally, A.23
more..
-
90
-
-
80755189340
-
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques
-
COI: 1:CAS:528:DC%2BC3MXhtlWltbnF, PID: 22002653
-
Yan G, Zhang G, Fang X, Zhang Y, Li C, Ling F, Cooper DN, Li Q, Li Y, van Gool AJ, Du H, Chen J, Chen R, Zhang P, Huang Z, Thompson JR, Meng Y, Bai Y, Wang J, Zhuo M, Wang T, Huang Y, Wei L, Li J, Wang Z, Hu H, Yang P, Le L, Stenson PD, Li B, Liu X, Ball EV, An N, Huang Q, Zhang Y, Fan W, Zhang X, Li Y, Wang W, Katze MG, Su B, Nielsen R, Yang H, Wang J, Wang X, Wang J (2011) Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol 29:1019–1023
-
(2011)
Nat Biotechnol
, vol.29
, pp. 1019-1023
-
-
Yan, G.1
Zhang, G.2
Fang, X.3
Zhang, Y.4
Li, C.5
Ling, F.6
Cooper, D.N.7
Li, Q.8
Li, Y.9
van Gool, A.J.10
Du, H.11
Chen, J.12
Chen, R.13
Zhang, P.14
Huang, Z.15
Thompson, J.R.16
Meng, Y.17
Bai, Y.18
Wang, J.19
Zhuo, M.20
Wang, T.21
Huang, Y.22
Wei, L.23
Li, J.24
Wang, Z.25
Hu, H.26
Yang, P.27
Le, L.28
Stenson, P.D.29
Li, B.30
Liu, X.31
Ball, E.V.32
An, N.33
Huang, Q.34
Zhang, Y.35
Fan, W.36
Zhang, X.37
Li, Y.38
Wang, W.39
Katze, M.G.40
Su, B.41
Nielsen, R.42
Yang, H.43
Wang, J.44
Wang, X.45
Wang, J.46
more..
-
91
-
-
85011114753
-
A variant by any name: quantifying annotation discordance across tools and clinical databases
-
PID: 28122645
-
Yen JL, Garcia S, Montana A, Harris J, Chervitz S, Morra M, West J, Chen R, Church DM (2017) A variant by any name: quantifying annotation discordance across tools and clinical databases. Genome Med 9:7
-
(2017)
Genome Med
, vol.9
, pp. 7
-
-
Yen, J.L.1
Garcia, S.2
Montana, A.3
Harris, J.4
Chervitz, S.5
Morra, M.6
West, J.7
Chen, R.8
Church, D.M.9
-
92
-
-
84899964765
-
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
-
COI: 1:CAS:528:DC%2BC2cXnslCqt74%3D, PID: 24436305
-
Zhang X, Lin H, Zhao H, Hao Y, Mort M, Cooper DN, Zhou Y, Liu Y (2014) Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Hum Mol Genet 23:3024–3034
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3024-3034
-
-
Zhang, X.1
Lin, H.2
Zhao, H.3
Hao, Y.4
Mort, M.5
Cooper, D.N.6
Zhou, Y.7
Liu, Y.8
|